The pattern of anatomical organization of the thoraco-abdominal visceral and vascular structures which is not the expected normal arrangement, is called as situs ambiguous or heterotaxy syndrome. Patients with heterotaxy syndrome exhibit a wide spectrum of anatomical variations involving thoraco-abdominal structures. We present here an incidental finding of heterotaxy syndrome associated with unique vascular anomalies in a 35 year old male patient evaluated initially for nephrolithiasis by ultrasonography, and intravenous pyelography...

Thoraco-abdominal viscera have unique morphological asymmetry, unlike the body's external organs. Heterotaxy syndrome is a disorder in which there is a loss of normal left to right asymmetry of thoraco-abdominal viscera and their naturally proscribed spatial relationship. It has multiple anatomical alterations, culminating into physiological and hemodynamic consequences. It is divided into two groups on the basis of morphology of the two atrial appendages. These subgroups are - 1) Isomerism of right atrial appendage (asplenia syndrome); 2) Isomerism of left atrial appendage (polysplenia syndrome); Patients from group I, usually have severe cardiac malformations and present early...

OBJECTIVES: To compare the differences of visceral anomalies shown by computed tomography (CT) in patients with polysplenia syndrome (PS) or asplenia syndrome (AS). METHODS: This retrospective study was approved by the institutional review board, and informed consent was waived. Thirty-one patients with PS and 29 patients with AS underwent chest-abdominal CT. The evaluated CT findings were as follows: the orientation of stomach, liver and gallbladder; short pancreas; azygous/hemiazygous continuation; ipsilateral position of the inferior vena cava and aorta; preduodenal portal vein; abnormal confluence of renal vein (defined as renal vein drains to the inferior vena cava or azygous/hemiazygous vein at the upper level of celiac trunk origin); gastrointestinal malrotation; and tracheobronchial tree...

A 54-year-old woman was referred to our hospital for symptomatic sinus bradyarrhythmia with a sinus pause of 8 seconds. She was diagnosed with dextrocardia during childhood and discovered to have heterotaxy syndrome when she had an appendectomy during her teenager years. Chest and abdominal examinations by computed tomography showed multiple spleens located on the right side and abnormal drainages of the superior and inferior vena cava. Left isomerism was diagnosed by bilaterally bilobed lungs. Because of a patent bilateral superior vena cava, pacemaker leads were implanted using the right cephalic vein approach...

Biliary atresia (BA) is a pediatric cholangiopathy with unknown etiology occurring in isolated and syndromic forms. Laterality defects affecting the cardiovascular and gastrointestinal systems are the most common features present in syndromic BA. Most cases are sporadic, although reports of familial cases have led to the hypothesis of genetic susceptibility in some patients. We identified a child with BA, malrotation, and interrupted inferior vena cava whose father presented with situs inversus, polysplenia, panhypopituitarism, and mildly dysmorphic facial features...

Prenatal diagnosis of Hirschsprung's disease is extremely rare and has only been suggested by ultrasound. This report presents a 29-week fetus with heterotaxy and polysplenia syndrome and prenatal diagnosis of nonrotation of the bowel and Hirschsprung's disease by fetal MRI. None of the previously reported findings in the literature suggestive of distal bowel obstruction were noted in this case. Rather, there was a diminutive size of the rectosigmoid compared to the rest of the colon. Fetal MRI has become an important tool in the fetal diagnosis of multiple anomalies and can aid in perinatal and immediate postnatal care of patients, such as those with Hirschsprung's disease...

Polysplenia/heterotaxy syndrome is a rare congenital disorder associated with a wide spectrum of anomalies in various organ systems. Although anomalies of the cardiovascular system are common in this syndrome, the authors report a rare case of polysplenia syndrome associated with aortic pseudocoarctation, which to our knowledge has never been reported.

It is well recognized that the patients with the most complex cardiac malformations are those with so-called visceral heterotaxy. At present, it remains a fact that most investigators segregate these patients on the basis of their splenic anatomy, describing syndromes of so-called asplenia and polysplenia. It has also been known for quite some time, nonetheless, that the morphology of the tracheobronchial tree is usually isomeric in the setting of heterotaxy. And it has been shown that the isomerism found in terms of bronchial arrangement correlates in a better fashion with the cardiac anatomy than does the presence of multiple spleens, or the absence of any splenic tissue...

BACKGROUND: Polisplenia syndrome (PSS) is a rare subtype of heterotaxy syndrome and means ambiguous location of the major thoracic and abdominal organs with vascular anomalies and multiple spleens. We reported on the findings of computed tomography (CT) of PSS in adults, detected incidentally. CASE REPORT: Two woman underwent a CT examination of the thorax for different thoracic pathologies. There were common abnormalities such as hyparterial bronchi and absence of middle lobe fissure on CTscans suggesting heterotaxy syndrome...

Patients with heterotaxy syndrome (HS) have a range of anomalies and outcomes. There are limited data on perinatal outcomes after prenatal diagnosis. To determine the factors influencing perinatal and infant outcomes, we analyzed prenatal and postnatal variables in fetuses with HS from 1995 to 2011. Of 154 fetuses with HS, 61 (40%) had asplenia syndrome (ASP) and 93 (60%) had polysplenia syndrome (PSP). In the ASP group, 22 (36%) patients were elected for termination of pregnancy, 4 (10%) had fetal death, and 35 of 39 (90%) continued pregnancies were live born...

Heterotaxy is a rare disease with high morbidity and mortality. Controversy exists over how to classify these syndromes with most cases stratified into asplenia/polysplenia syndromes or right/left isomerism. In an effort to review comprehensively specific pheonotypes associated with heterotaxy syndromes, we reviewed published cases series, adopted a classification scheme based on spleen status, and evaluated autopsy cases retrospectively with abnormal laterality at our institution. We categorized 116 cases as situs inversus totalis, polysplenia, asplenia, and single right-sided spleen...

Hetrotaxy syndrome is defined as an abnormality where the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body. Although it is a known condition among physicians taking care of pediatric patients, it is rarely seen in adult day-to-day medicine and most physicians involved in care of adult patients are unaware of it. It is important to recognize this anomaly based on clinical findings,due to its reported association with various medical conditions. We report a case of a 77-year-old patient diagnosed with Hetrotaxy syndrome...

Congenital atrioventricular (AV) block is commonly associated with heterotaxy syndrome; together they have reportedly low survival rates (10-25%). However, information about perinatal outcome and predictors of non-survival after prenatal diagnosis of this association is scarce. Therefore, we studied fetuses with heterotaxy syndrome and bradycardia or AV-block diagnosed between 1995 and 2011, and analyzed pre and post-natal variables. The primary outcome was death and the secondary outcome was pacemaker placement...

Spontaneous arteriovenous communications below the diaphragm is a very rare condition. Its association with polysplenia has perhaps not yet been reported in children. We reported a case in a 9-year-old boy presenting with acute onset of fever, vomiting, headache, seizures and altered sensorium. A CT scan revealed a large occipital abscess which was drained surgically. On examination he had marked central cyanosis and grade III clubbing of fingers and toes. Further investigations led to the discovery of a very rare finding of abdominal arteriovenous malformation associated with multiple-enhancing structures around the splenic bed suggestive of polysplenia...

According to The International Society for Nomenclature of Pediatric and Congenital Heart Disease (ISNPCHD), "Heterotaxy is synonymous with 'visceral heterotaxy' and 'heterotaxy syndrome'. Heterotaxy is defined as an abnormality where the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body. By convention, heterotaxy does not include patients with either the expected usual or normal arrangement of the internal organs along the left-right axis, also known as 'situs solitus', or patients with complete mirror-imaged arrangement of the internal organs along the left-right axis also known as `situs inversus'...

The important anatomic aspects of heterotaxy syndrome can be diagnosed by Doppler echocardiography in the newborn and infant. An organized approach and an understanding of asplenia (right atrial isomerism) and polysplenia (left atrial isomerism) are integral to the echocardiographic study. Detailed and precise depiction of the anatomy is the mainstay for staging subsequent medical and surgical management.

In the accompanying article, Chenu and colleagues describe "an uncommon course of the right superior vena cava in a patient with heterotaxy syndrome." In their discussion, they pose the question, "Is this an isolated atrial inversion, or a case of left isomerism?" They proceed to comment "this remains a debate among cardiac morphologists." I can agree with them on their first description, since although I have previously examined many hearts from patients with isomerism of the left atrial appendages, or "polysplenia syndrome," I had not noticed the unusual feature they have emphasized in their case report; although, as I will show, the evidence was there for me to observe their feature of emphasis...

Polysplenia syndrome is classified as one of the situs ambiguous or heterotaxy syndromes and is classically termed left isomerism or bilateral left-sidedness. However, polysplenia is a controversial and complex entity with no fixed pathognomonic features but rather a broad spectrum of abnormalities. In many published case series, polysplenia was neither associated with viscero-atrial heterotaxy nor with duplication of left-sided structures. The relationship between polysplenia and viscero-atrial situs is not clear...